Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs130555
rs130555
2 1.000 0.040 22 32787803 intron variant C/T snv 0.77 0.700 1.000 1 2014 2014
dbSNP: rs3116494
rs3116494
4 0.882 0.120 2 203727298 intron variant G/A snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs4552569
rs4552569
2 1.000 0.040 5 83877774 upstream gene variant C/T snv 0.75 0.010 1.000 1 2013 2013
dbSNP: rs3810936
rs3810936
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.010 1.000 1 2018 2018
dbSNP: rs1861494
rs1861494
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2014 2014
dbSNP: rs6478109
rs6478109
12 0.752 0.320 9 114806486 upstream gene variant A/G snv 0.74 0.800 1.000 1 2008 2008
dbSNP: rs7848647
rs7848647
13 0.732 0.320 9 114806766 upstream gene variant T/C snv 0.74 0.710 1.000 2 2015 2018
dbSNP: rs17119
rs17119
4 0.882 0.120 6 14719265 intron variant G/A snv 0.74 0.800 1.000 3 2012 2017
dbSNP: rs564349
rs564349
1 5 172897975 3 prime UTR variant G/A snv 0.73 0.700 1.000 1 2015 2015
dbSNP: rs6478108
rs6478108
10 0.763 0.200 9 114796423 intron variant C/T snv 0.73 0.010 1.000 1 2018 2018
dbSNP: rs1648234
rs1648234
1 11 19308167 intron variant G/A snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs5743810
rs5743810
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2019 2019
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2013 2016
dbSNP: rs2305767
rs2305767
4 0.882 0.280 19 17183487 intron variant C/T snv 0.70 0.020 1.000 2 2009 2010
dbSNP: rs6795970
rs6795970
13 0.807 0.200 3 38725184 missense variant A/G snv 0.65 0.70 0.010 1.000 1 2018 2018
dbSNP: rs2315008
rs2315008
4 0.925 0.120 20 63712604 intron variant T/G snv 0.70 0.800 1.000 1 2008 2008
dbSNP: rs2695121
rs2695121
16 0.716 0.280 19 50377484 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2011 2011
dbSNP: rs6592362
rs6592362
1 11 87414396 intergenic variant A/G snv 0.69 0.800 1.000 1 2012 2012
dbSNP: rs6142618
rs6142618
1 20 32137845 intron variant A/G snv 0.69 0.800 1.000 1 2012 2012
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 0.667 3 2014 2017
dbSNP: rs2284553
rs2284553
9 0.776 0.240 21 33404389 intron variant A/G snv 0.69 0.700 1.000 2 2015 2017
dbSNP: rs4317455
rs4317455
1 6 3263257 intron variant C/T snv 0.68 0.700 1.000 1 2018 2018
dbSNP: rs449454
rs449454
3 0.925 0.080 5 142153497 3 prime UTR variant A/G snv 0.65 0.68 0.700 1.000 1 2015 2015
dbSNP: rs2228226
rs2228226
6 0.851 0.160 12 57472038 missense variant G/C snv 0.60 0.68 0.010 < 0.001 1 2010 2010